Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance.
Twenty-seven patients with lysinuric protein intolerance, an autosomal recessive disorder of diamino acid transport, have been followed at our hospital since 1965. Many of the patients had recurrent mild normochromic anaemia without apparent iron deficiency, and leuko- and/or thrombocytopenia. Serum ferritin concentrations were inappropriately high. Serum ferritin concentration appears to be a valuable index of the control of this disease.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood*; D001772:Blood Cell Count; D002648:Child; D002675:Child, Preschool; D005260:Female; D005293:Ferritins / Q000097:blood*; D005500:Follow-Up Studies; D006452:Hemoglobinometry; D006801:Humans; D008239:Lysine / Q000378:metabolism*; D009996:Osmotic Fragility
D005293:Ferritins; D008239:Lysine